Canonical Allele Identifier: CA376728853

Gene: ERCC6

Linked Data

• gnomAD v4: 10-49500596-T-A
• MyVariant Identifiers: chr10:g.50708642T>A (hg19) ; chr10:g.49500596T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49500596T>A , CM000672.2:g.49500596T>A	GRCh38
NC_000010.10:g.50708642T>A , CM000672.1:g.50708642T>A	GRCh37
NC_000010.9:g.50378648T>A	NCBI36
NG_009442.1:g.43506A>T , LRG_465:g.43506A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355832.10:c.1627A>T MANE Select	ENSP00000348089.5:p.Ile543Phe
ENST00000681632.1:n.1705A>T
ENST00000681659.1:c.1526+5288A>T	ENSP00000505631.1:n.1526+5288A>T
ENST00000355832.9:c.1627A>T	ENSP00000348089.5:p.Ile543Phe
ENST00000475116.1:n.217A>T
ENST00000623073.3:c.28A>T	ENSP00000485650.1:p.Ile10Phe
ENST00000623115.3:c.-128A>T	ENSP00000485321.1:n.-128A>T
ENST00000623318.1:c.28A>T	ENSP00000485423.1:p.Ile10Phe
NM_000124.3:c.1627A>T	NP_000115.1:p.Ile543Phe
NM_001346440.1:c.1627A>T	NP_001333369.1:p.Ile543Phe
NM_000124.4:c.1627A>T MANE Select	NP_000115.1:p.Ile543Phe
NM_001346440.2:c.1627A>T	NP_001333369.1:p.Ile543Phe